Severe phenotype of X-linked dominant chondrodysplasia punctata

Clin Case Rep. 2017 Jul 20;5(9):1435-1437. doi: 10.1002/ccr3.1008. eCollection 2017 Sep.

¹ Division of Clinical and Metabolic Genetics The Hospital for Sick Children University of Toronto Toronto Ontario M5G 1X8 Canada.
² The Prenatal Diagnosis and Medical Genetics Program Department of Obstetrics and Gynecology Mount Sinai Hospital University of Toronto Toronto Ontario M5G1E2 Canada.
³ Kennedy Krieger Institute Baltimore Maryland 2120 USA.
⁴ Department of Laboratory Medicine and Pathology Mount Sinai Hospital Toronto Ontario M5G1X5 Canada.

Abstract

A prenatally ascertained case representing the more severe end of the X-linked dominant chondrodysplasia punctata (CDPX2).

Keywords: Chondrodysplasia; X‐linked; prenatal; punctata; severe.